The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the fontanelles or cranial sutures||90%|
|Neurological speech impairment||90%|
|Abnormality of the heme biosynthetic pathway||50%|
|Abnormality of the tongue||50%|
|Depressed nasal ridge||50%|
|Everted lower lip vermilion||50%|
|Hypoplasia of penis||50%|
|Thick lower lip vermilion||50%|
|Abnormality of movement||7.5%|
|Abnormality of the kidney||7.5%|
|Abnormality of the teeth||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Cerebral cortical atrophy||7.5%|
|Clinodactyly of the 5th finger||7.5%|
|Feeding difficulties in infancy||7.5%|
|Limitation of joint mobility||7.5%|
|Nausea and vomiting||7.5%|
|Recurrent urinary tract infections||7.5%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of metabolism/homeostasis||-|
|Absent frontal sinuses||-|
|Depressed nasal bridge||-|
|Hypochromic microcytic anemia||-|
|Infantile muscular hypotonia||-|
|Perimembranous ventricular septal defect||-|
|Posteriorly rotated ears||-|
|Postnatal growth retardation||-|
|Radial deviation of finger||-|
|Reduced alpha/beta synthesis ratio||-|
|U-Shaped upper lip vermilion||-|
|Widely-spaced maxillary central incisors||-|
|X-linked dominant inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My son was diagnosed with alpha-thalassemia x-linked intellectual disability syndrome. The questions I have relate to other members of the family. I have a sister who has children. I understand that if my sister has the mutation, there is a chance that she passed it to her daughter, who would then be a carrier. But the literature I have read isn't completely clear regarding boys. If my sister carries the mutation, could she have passed it to her son and could her son be an unaffected carrier of the mutation? See answer